R16C (p.Arg16Cys) variant of AIP (AH receptor-interacting protein)
R16C (p.Arg16Cys) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs549056286
- ClinGen CA6140672
- ClinVar RCV001992723
- ClinVar RCV002334954
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.57
- MetaLR 0.63
- MetaSVM 0.27
- CADD 29.00
- PolyPhen-2 0.66
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs145047094)
- UniProt: Uncertain significance (in dbSNP:rs145047094)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)